NEWBORN SCREENING FOR LYSOSOMAL STORAGE DISORDERS AND OTHER NEURONOPATHIC CONDITIONS
- Author
- MATERN, Dietrich1 2 3 ; OGLESBEE, Devin1 2 ; TORTORELLI, Silvia1 2
[1] Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, Minnesota, United States
[2] Department of Medical Genetics, Mayo Clinic College of Medicine, Rochester, Minnesota, United States
[3] Department of Pediatric and Adolescent Medicine, Mayo Clinic College of Medicine, Rochester, Minnesota, United States - Issue title
- Neurodevelopmental Issues in Inborn Errors of Metabolism
- Author (monograph)
- ARNOLD, Georgianne L (Editor)1 ; VOCKLEY, Jerry (Editor)1
[1] Division of Medical Genetics, Department of Pediatrics, University of Pittsburgh School of Medicine, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, United States - Source
Developmental disabilities research reviews. 2013, Vol 17, Num 3-4, pp 247-253, 7 p ; ref : 1 p.1/4
- ISSN
- 1940-5510
- Scientific domain
- Pediatrics; Psychology, psychopathology, psychiatry
- Publisher
- Wiley-Blackwell, Hoboken, NJ
- Publication country
- United States
- Document type
- Article
- Language
- English
- Author keyword
- dried blood spots immuno-quantification lysosomal storage disorder newborn screening peroxisomal disorders tandem mass spectrometry
- Keyword (fr)
- Article synthèse Dépistage Environnement social Nouveau né Pathologie des lysosomes Pathologie des peroxysomes Programme sanitaire Spectrométrie masse tandem Tache de sang séché Etats-Unis Enzymopathie Homme Maladie héréditaire Maladie métabolique Santé publique Amérique du Nord Amérique
- Keyword (en)
- Review Medical screening Social environment Newborn Lysosomal storage disease Peroxisomal disorders Sanitary program Mass spectrometry MS/MS United States Enzymopathy Human Genetic disease Metabolic diseases Public health North America America
- Keyword (es)
- Artículo síntesis Descubrimiento Contexto social Recién nacido Lisosoma patología Peroxisoma patología Programa sanitario Espectrometría masa en tándem Estados Unidos Enzimopatía Hombre Enfermedad hereditaria Metabolismo patología Salud pública America del norte America
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B18 Psychopathology. Psychiatry / 002B18H Social psychiatry. Ethnopsychiatry / 002B18H05 Mental health / 002B18H05A Prevention. Health policy. Planification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B22 Metabolic diseases / 002B22D Errors of metabolism / 002B22D02 Lipids (lysosomal enzyme disorders, storage diseases)
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B30 Public health. Hygiene-occupational medicine
- Francis
- 770 Psychology. Psychoanalysis. Psychiatry / 770-D Psychopathology. Psychiatry / 770-D08 Social psychiatry. Ethnopsychiatry / 770-D08E Mental health / 770-D08E01 Prevention. Health policy. Planification
- Discipline
- Metabolic diseases Psychopathology. Psychiatry. Clinical psychology Public health. Hygiene-occupational medicine
- Origin
- Inist-CNRS
- Database
- FRANCIS ; PASCAL
- INIST identifier
- 27537124
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1002/ddrr.1117 
https://dx.doi.org/10.1002/ddrr.1117
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